Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management
Hereditary Hemorrhagic Telangiectasia (HHT), or Rendu–Osler–Weber syndrome, is a dominantly inheritable rare disease with a prevalence of 1:5,000 – 10,000 people. The diagnosis of HHT, as a rare disease, follows the Curaçao Diagnostic Criteria: Nosebleeds (epistaxis), whether spontaneous or recurren...
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MDPI - Multidisciplinary Digital Publishing Institute
2024
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| description | Hereditary Hemorrhagic Telangiectasia (HHT), or Rendu–Osler–Weber syndrome, is a dominantly inheritable rare disease with a prevalence of 1:5,000 – 10,000 people. The diagnosis of HHT, as a rare disease, follows the Curaçao Diagnostic Criteria: Nosebleeds (epistaxis), whether spontaneous or recurrent; (multiple) telangiectases at characteristic sites, including the lips, oral cavity, fingers and nose; Internal lesions: arteriovenous malformations (AVMs) or telangiectases in the stomach, lungs, liver, brain and spinal cord; Family history: a first-degree relative with HHT, according to these criteria. When a patient meets at least three of these criteria, it is considered definite that they have HHT. Nowadays, three subtypes of HHT have been identified. HHT type 1 refers to mutations on the endoglin gene ENG; HHT type 2 refers to mutations on the activin A receptor-like type 1 (ACVRL1) gene; and the third one, named juvenile polyposis–hereditary hemorrhagic telangiectasia (JPHT or JPHHT) overlap syndrome, refers to mutations on the gene MADH 4. There are two other subtypes (HHT-3 and 4) in which the mutations have not yet been completely identified, but they are known to be located on the 5q31.3-q32 and 7p14 chromosomal regions, respectively. |
| format | Online |
| id | doab-20.500.12854ir-137602 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2024 |
| publishDateRange | 2024 |
| publishDateSort | 2024 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
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| spelling | doab-20.500.12854ir-1376022024-05-14T13:42:32Z Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management Cuesta, Angel hereditary hemorrhagic telangiectasia germline mutation founder effect haplotype genealogy population genetics SARS-CoV-2 COVID-19 hereditary hemorrhagic telangiectasia (HHT) pandemic ACE2 receptor inflammation cytokine storm restless leg syndrome anemia chronic iron deficiency telemedicine remote consultation epistaxis quality of life ENG ACVRL1 SMAD4 genetic test Curaçao criteria family screening HHT sclerotherapy polidocanol propranolol HHT-ESS Morbus Osler Rendu-Osler-Weber syndrome Osler Calendar orphan disease arteriovenous malformations organ manifestation screening laser therapy Rendu–Osler–Weber syndrome pregnancy cerebrovascular malformations genetics gene variants ACVRL1/ALK1 splicing mutation Osler-Weber-Rendu disease n/a thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology::MKGW Psychopharmacology Hereditary Hemorrhagic Telangiectasia (HHT), or Rendu–Osler–Weber syndrome, is a dominantly inheritable rare disease with a prevalence of 1:5,000 – 10,000 people. The diagnosis of HHT, as a rare disease, follows the Curaçao Diagnostic Criteria: Nosebleeds (epistaxis), whether spontaneous or recurrent; (multiple) telangiectases at characteristic sites, including the lips, oral cavity, fingers and nose; Internal lesions: arteriovenous malformations (AVMs) or telangiectases in the stomach, lungs, liver, brain and spinal cord; Family history: a first-degree relative with HHT, according to these criteria. When a patient meets at least three of these criteria, it is considered definite that they have HHT. Nowadays, three subtypes of HHT have been identified. HHT type 1 refers to mutations on the endoglin gene ENG; HHT type 2 refers to mutations on the activin A receptor-like type 1 (ACVRL1) gene; and the third one, named juvenile polyposis–hereditary hemorrhagic telangiectasia (JPHT or JPHHT) overlap syndrome, refers to mutations on the gene MADH 4. There are two other subtypes (HHT-3 and 4) in which the mutations have not yet been completely identified, but they are known to be located on the 5q31.3-q32 and 7p14 chromosomal regions, respectively. 2024-05-14T13:42:25Z 2024-05-14T13:42:25Z 2024 book ONIX_20240514_9783036599014_202 9783036599014 9783036599021 https://directory.doabooks.org/handle/20.500.12854/137602 eng application/octet-stream Attribution-NonCommercial-NoDerivatives 4.0 International https://mdpi.com/books/pdfview/book/8788 https://mdpi.com/books/pdfview/book/8788 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-9902-1 10.3390/books978-3-0365-9902-1 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036599014 9783036599021 132 open access |
| spellingShingle | hereditary hemorrhagic telangiectasia germline mutation founder effect haplotype genealogy population genetics SARS-CoV-2 COVID-19 hereditary hemorrhagic telangiectasia (HHT) pandemic ACE2 receptor inflammation cytokine storm restless leg syndrome anemia chronic iron deficiency telemedicine remote consultation epistaxis quality of life ENG ACVRL1 SMAD4 genetic test Curaçao criteria family screening HHT sclerotherapy polidocanol propranolol HHT-ESS Morbus Osler Rendu-Osler-Weber syndrome Osler Calendar orphan disease arteriovenous malformations organ manifestation screening laser therapy Rendu–Osler–Weber syndrome pregnancy cerebrovascular malformations genetics gene variants ACVRL1/ALK1 splicing mutation Osler-Weber-Rendu disease n/a thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology::MKGW Psychopharmacology Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management |
| title | Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management |
| title_full | Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management |
| title_fullStr | Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management |
| title_full_unstemmed | Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management |
| title_short | Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management |
| title_sort | hereditary hemorrhagic telangiectasia diagnosis and management |
| topic | hereditary hemorrhagic telangiectasia germline mutation founder effect haplotype genealogy population genetics SARS-CoV-2 COVID-19 hereditary hemorrhagic telangiectasia (HHT) pandemic ACE2 receptor inflammation cytokine storm restless leg syndrome anemia chronic iron deficiency telemedicine remote consultation epistaxis quality of life ENG ACVRL1 SMAD4 genetic test Curaçao criteria family screening HHT sclerotherapy polidocanol propranolol HHT-ESS Morbus Osler Rendu-Osler-Weber syndrome Osler Calendar orphan disease arteriovenous malformations organ manifestation screening laser therapy Rendu–Osler–Weber syndrome pregnancy cerebrovascular malformations genetics gene variants ACVRL1/ALK1 splicing mutation Osler-Weber-Rendu disease n/a thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology::MKGW Psychopharmacology |
| topic_facet | hereditary hemorrhagic telangiectasia germline mutation founder effect haplotype genealogy population genetics SARS-CoV-2 COVID-19 hereditary hemorrhagic telangiectasia (HHT) pandemic ACE2 receptor inflammation cytokine storm restless leg syndrome anemia chronic iron deficiency telemedicine remote consultation epistaxis quality of life ENG ACVRL1 SMAD4 genetic test Curaçao criteria family screening HHT sclerotherapy polidocanol propranolol HHT-ESS Morbus Osler Rendu-Osler-Weber syndrome Osler Calendar orphan disease arteriovenous malformations organ manifestation screening laser therapy Rendu–Osler–Weber syndrome pregnancy cerebrovascular malformations genetics gene variants ACVRL1/ALK1 splicing mutation Osler-Weber-Rendu disease n/a thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology::MKGW Psychopharmacology |
| url | ONIX_20240514_9783036599014_202 |